PNPLA8 (patatin like phospholipase domain containing 8)

2007-02-01  

Identity

HGNC
PNPLA8
LOCATION
7q31.1
LOCUSID
50640
ALIAS
IPLA2-2,IPLA2G,MMLA,PNPLA-gamma,iPLA2gamma
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 50640
MIM: 612123
HGNC: 28900
Ensembl: ENSG00000135241

Variants:

dbSNP: 50640
ClinVar: 50640
TCGA: ENSG00000135241
COSMIC: PNPLA8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135241ENST00000257694Q9NP80
ENSG00000135241ENST00000257694A0A024R746
ENSG00000135241ENST00000415498C9J9W9
ENSG00000135241ENST00000422087Q9NP80
ENSG00000135241ENST00000422087A0A024R746
ENSG00000135241ENST00000426128Q9NP80
ENSG00000135241ENST00000427008C9JAX4
ENSG00000135241ENST00000436062Q9NP80
ENSG00000135241ENST00000436062A0A024R746
ENSG00000135241ENST00000453085A0A0C4DG51
ENSG00000135241ENST00000453144Q9NP80

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Acyl chain remodelling of PEREACTOMER-HSA-1482839
Acyl chain remodelling of PCREACTOMER-HSA-1482788

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
156955102005Group VIB Ca2+-independent phospholipase A2gamma promotes cellular membrane hydrolysis and prostaglandin production in a manner distinct from other intracellular phospholipases A2.22
232585432013Complement-mediated activation of calcium-independent phospholipase A2γ: role of protein kinases and phosphorylation.10
234295362013The absence of myocardial calcium-independent phospholipase A2γ results in impaired prostaglandin E2 production and decreased survival in mice with acute Trypanosoma cruzi infection.7
253138212014Group VIB calcium-independent phospholipase A2 (iPLA2γ) regulates platelet activation, hemostasis and thrombosis in mice.7
291582562018Heart failure-induced activation of phospholipase iPLA2γ generates hydroxyeicosatetraenoic acids opening the mitochondrial permeability transition pore.5
198924092010Schizophrenia: an association study targets phospholipase A2 genes as potential sites of susceptible genes.1
296810942018A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ.1
186805392008Is calcium-independent phospholipase A2 required for store-operated calcium entry in human platelets?0

Citation

Dessen P

PNPLA8 (patatin like phospholipase domain containing 8)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46036/pnpla8